Adrenocorticotropic Hormone ; blood ; Animals ; Female ; Hypoxia ; metabolism ; Male ; Rats ; Rats, Wistar

OBJECTIVETo assess subtelomeric chromosome anomalies in patients with idiopathic mental retardation (MR).

METHODSSubtelomeric screening was performed in 46 patients with undiagnosed mental retardation. The patients were selected based on the following criteria: (1) MR with two or more of the following conditions: dysmorphic features, prenatal growth retardation, postnatal growth abnormalities, a suggestive family history; (2) chromosome karyotype at the level >450 bands being normal; (3) exclusion of other identified genetic or environmental diagnosis. Fluorescence in situ hybridization (FISH) was performed using ToTelVysion DNA probes. Abnormal findings were confirmed by FISH with a specific subtelomeric probes and family studies were carried out to determine its inheritance.

RESULTClinically significant aberrations were detected in two cases with 6q and 2q terminal microdeletion. The deletion in one case was inherited from a similarly affected father. Subtle chromosomal subtelomeric abnormalities occurred with a frequency of 7.6% in children with moderate to severe mental retardation and of 3.0% in the children with mild retardation.

CONCLUSIONThe results suggest that cryptic abnormalities of the ends of chromosomes might represent a significant cause of mental retardation, and screening for subtelomeric rearrangements might be warranted in children with unexplained mental retardation.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability ; genetics ; Telomere

OBJECTIVE: The purposes of this study were to measure the orthodontic forces generated by thermoplastic aligners and investigate the possible influences of different activations for lingual bodily movements on orthodontic forces, and their attenuation. METHODS: Thermoplastic material of 1.0-mm in thickness was used to manufacture aligners for 0.2, 0.3, 0.4, 0.5, and 0.6 mm activations for lingual bodily movements of the maxillary central incisor. The orthodontic force in the lingual direction delivered by the thermoplastic aligners was measured using a micro-stress sensor system for the invisible orthodontic technique, and was monitored for 2 weeks. RESULTS: Orthodontic force increased with the amount of activation of the aligner in the initial measurements. The attenuation speed in the 0.6 mm group was faster than that of the other groups (p < 0.05). All aligners demonstrated rapid relaxation in the first 8 hours, which then decreased slowly and plateaued on day 4 or 5. CONCLUSIONS: The amount of activation had a substantial influence on the orthodontic force imparted by the aligners. The results suggest that the activation of lingual bodily movement of the maxillary central incisor should not exceed 0.5 mm. The initial 4 or 5 days is important with respect to orthodontic treatment incorporating an aligner.
Incisor* ; Relaxation

OBJECTIVETo explore whether chromosomal microdeletions have a role in the pathogenesis of unexplained mental retardation (MR) and the value of fluorescence in situ hybridization (FISH) in the detection of microdeletions in MR.

METHODSSelection of patients was based on the following criteria: (1) MR with two or more of the following: dysmorphic features, prenatal growth retardation, postnatal growth abnormalities, a suggestive family history; (2) Chromosome karyotype at the level >450 bands was normal; (3) Exclusion of other identified genetic or environmental diagnosis. FISH was carried out with specific DNA probe to 47 undiagnosed MR to identify interstitial microdeletions and further screen the integrity chromosome subtelomere.

RESULTSSix cases were analyzed by FISH for special interstitial microdeletions and anomaly was found in one case with 7q11.23 deletion. Subtelomeric FISH analyses were performed in 46 patients, and two cases with a deletion of subtelomeric region of chromosome 6q and 2q respectively were identified.

CONCLUSIONChromosome microdeletions are supposed to be a significant cause of idiopathic MR, once recognizable syndromes have been excluded, FISH analyses for interstitial microdeletions and subtelomeric rearrangements are warranted in children with unexplained MR.

Chromosome Deletion ; Chromosomes, Human, Pair 2 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Genetic Predisposition to Disease ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics

BACKGROUNDHepatic alveolar echinococcosis (AE) is a parasitic disease in humans and caused by the Echinococcus multilocularis (Em). Orthotopic liver transplantation (OLT) may be the only effective treatment for end-stage hepatic AE. However, in some AE patients, extrahepatic Em can not be completely eliminated after OLT. We aimed to study whether the immunological changes caused by Em evasion may influence the rejective response.

METHODSRat modles of AE were established by injecting the Em suspension into abdomen of Brown Norway (BN) rats. Three months later, in the experimental group, the liver was transplanted from Lewis (LEW) rats to Em-infected BN rats. In the control group, transplantation was from LEW rats to healthy BN rats. Liver tissue and peripheral blood (PB) samples were collected on days 1, 3, 5, and 7 after OLT. Liver tissue was analyzed after hematoxylin and eosin (H&E) staining; numbers of CD4, CD8, and CD28 on peripheral blood cells were detected by flow cytometry; and expression of the chemokine fractalkine (Fkn) was detected by reverse transcription PCR (RT-PCR). Interleukin-10 (IL-10) was measured in the serum by enzyme-linked immunosorbent assay (ELISA). In every group, eight BN rats were retained for observing survival time.

RESULTSThe survival times of recipients in the experimental group were prolonged compared with those in the control group. The rejective response occurred later and was milder in the experimental group. percentage of CD4, CD8, CD28 T-cells and Fkn mRNA expression were lower in the experimental group. While the serum IL-10 levels were higher in the experimental group than those in the control group.

CONCLUSIONSAcute rejective response after OLT was attenuated in the rats with Em infection, and the recipients` survival time was prolonged. Em may play a role in this process by elevating IL-10 secretion, decreasing the effector T cells, inhibiting the expression of Fkn, which lead to reduce the inflammatory cells infiltration into the liver.

Animals ; CD28 Antigens ; metabolism ; CD4-Positive T-Lymphocytes ; metabolism ; CD8-Positive T-Lymphocytes ; metabolism ; Echinococcosis, Hepatic ; mortality ; surgery ; therapy ; Echinococcus multilocularis ; pathogenicity ; Enzyme-Linked Immunosorbent Assay ; Flow Cytometry ; Graft Rejection ; immunology ; Interleukin-10 ; blood ; Liver Transplantation ; adverse effects ; Rats ; Reverse Transcriptase Polymerase Chain Reaction

BACKGROUND: The current upper-frequency cutoff of 150 Hz sometimes causes loss of pacemaker spike and misdiagnosis. We hypothesized that low-pass filter (LPF) other than 150 Hz could improve the detection of pacemaker spike. This study aimed to examine the effect of different LPF on pacemaker spike detection in remote and bedside electrocardiogram (ECG). METHODS: Patients with permanent pacemaker implantation were included during routine follow-up. Standard 12-lead ECGs at 6 different upper-frequency cutoff (40, 100, 150, 200, 300, and 400 Hz) were collected. All ECGs were then transmitted to the remote clinic center. Ventricular and atrial pacing were analyzed by 2 independent medical practitioners. RESULTS: A total of 88 patients' ECGs were analyzed (mean age 73.8 ± 10.2 years and 85 with dual-chamber pacemakers). About 75.3% (64/85) of patients were diagnosed as atrial pacing by pacemaker programming. Among 6 different upper-frequency cutoff, the 300 Hz turned out to perform best in detecting atrial-paced spike (area under the curve [AUC] = 0.73, 95% confidence interval [CI]: 0.61-0.84 vs. 0.56, 95% CI: 0.61-0.84 at 150 Hz; P = 0.002) on bedside ECGs. Using programming as the golden standard, the 300 Hz LPF has a sensitivity of 59.4%, specificity of 85.7%, positive predictive value of 92.7% and negative predictive value of 40.9% on bedside ECGs. As for the ventricular pacing, the 300 Hz LPF also had a higher accuracy (AUC = 0.93; 95% CI = 0.84-1.00) than that at 150 Hz (AUC = 0.86; 95% CI: 0.77-0.94; P < 0.001) in detecting ventricular-paced spike on bedside ECGs. The results of remote ECGs were similar with bedside ECGs. CONCLUSIONS A filter of 300 Hz cutoff may be recommended for ECG spike detection. With the recommended parameter, remote ECG can perform as well as bedside ECG.
Aged ; Aged, 80 and over ; Cardiac Pacing, Artificial ; Electrocardiography ; methods ; Female ; Humans ; Male ; Middle Aged ; Pacemaker, Artificial ; Retrospective Studies

BACKGROUND: Catheter ablation is effective in restoring sinus rhythm and left atrial appendage closure (LAAC) is increasingly used for stroke prevention in patients with atrial fibrillation (AF). We aimed to observe the feasibility and safety of performing AF ablation and LAAC in a single (one-stop) procedure. METHODS: Consecutive AF patients who underwent the combined procedure of AF ablation and LAAC with WATCHMAN device between March 2017 and September 2018 were prospectively enrolled. Baseline and intra-procedural parameters were evaluated. Three-month and subsequent 1-year follow-up were performed in all and earlier-enrolled subjects, respectively. RESULTS: A total of 178 AF patients (94 males, 68.9 ± 8.1 years) underwent the one-stop procedure with CHA2DS2-VASc score 3.3 ± 1.5 and HAS-BLED score 1.6 ± 1.0, respectively. Pulmonary vein isolation was achieved in all patients while additional linear ablation was applied if the operator deemed necessary, yielding immediate ablation success rate of 98.9% (176/178). In the subsequent LAAC, satisfactory seal (residual leak <5 mm) was achieved in all patients. One stroke and four cardiac perforations occurred peri-operatively. At 3-month follow-up, sinus rhythm and satisfactory seal were maintained in 153/178 (86.0%) and 178/178 (100%) patients, respectively. One stroke and one delayed cardiac tamponade occurred, while no device-related thrombus or device migration was observed. During the 1-year follow-up for the earlier enrolled subjects, 52/72 (72.2%) of the patients maintained sinus rhythm. There was no stroke or systemic embolism observed. CONCLUSION Combining catheter ablation and LAAC in a single procedure can be successfully and safely performed in non-valvular AF patients of Chinese population.

OBJECTIVETo investigate the correlations between Fas-1377 and -670 polymorphisms and survival in Chinese women with breast cancer.

METHODSPolymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP) was used to detect the polymorphism of Fas gene in 310 breast cancer patients with a long-term follow-up (median 10.5 years, range 0.2 - 16.1 years). Survival curves were analyzed by Kaplan-Meier method.

RESULTSThe polymorphism of neither Fas-1377 nor Fas-670 was significantly correlated with the overall survival in this series of 310 cases (P > 0.05). However, among 146 patients without lymph node metastasis, the 5-year overall survival (OS) rate was significantly lower in the patients with Fas-1377 AA genotype than that in the patients with Fas-1377 GA or GG genotype (OS: 66.7% vs. 95.4%, P = 0.03). Among 117 patients with lymph node metastasis, both the Fas-1377 and Fas-670 polymorphisms were not significantly correlated with OS (P = 0.42).

CONCLUSIONAmong breast cancer patients without lymph node metastasis, patients with Fas-1377 AA genotype may have a worse survival, while patients with Fas-1377 GA or GG genotype may not be so.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Apoptosis ; Breast Neoplasms ; genetics ; metabolism ; pathology ; Female ; Follow-Up Studies ; Humans ; Lymphatic Metastasis ; Middle Aged ; Polymorphism, Genetic ; Prognosis ; Survival Rate ; Young Adult ; fas Receptor ; genetics ; metabolism

Along with the change in lifestyle and diet, diabetes mellitus with hyperlipidemia has been a major risk and death factor for cardiovascular disease with the increasing incidence of diabetes mellitus with hyperlipidemia year by year. In order to promote and make full use of unique characteristics and advantages of TCM, the guidance writing group adopted the pattern of combination with disease and syndrome to make a standardized approach to diagnosis and treatment based on emphasis on diagnosis and treatment. Guidelines for the Diagnosis and Treatment of Diabetes Mellitus with Hyperlipidemia Combined with Disease and Syndrome (hereinafter referred to as " the Guideline") was published in the World Chinese Medicine in August, 2021. Based on the pattern of combination with disease and syndrome, the Guideline highlights the significant characteristics, such as: precise diagnosis and treatment by combined with disease and syndrome, updating criteria, rehabilitation diet therapy and exercise and following the principles which include but not limited to evidence-based medicine. According to the evidence of evidence-based medicine and expert consensus, the Guideline gives recommendations for diagnosis, treatment and rehabilitation of diabetes mellitus with hyperlipidemia. In the article, the main contents and characteristics of the new guideline were interpreted in order to provide concise and practical guidance for clinicians and promote the clinical popularization and application of the Guideline.

ObjectiveTo assess the clinical efficacy and regulation of skin microbiota in children with atopic dermatitis and damp-heat accumulation syndrome treated by Zhaqu Xiaofeng Powder （楂曲消风散， ZXP）. MethodsNinety children were randomized into a treatment group and a control group， each with 45 children. The treatment group received ZXP orally， while the control group received levocetirizine hydrochloride syrup， both for 4 weeks. The atopic dermatitis severity index （SCORAD）score， visual analog scale （VAS）score for itching， children dermatology life quality index （CDLQI）score， and traditional Chinese medicine syndrome score were assessed before and after 2- and 4-week treatment. Simultaneously， adhering to the principles of sample size in microbial sequencing， 25 children were randomly selected from each group （total 50 children）； skin samples were collected before and after treatment， and skin specimen DNA was extracted for 16S rRNA gene amplifier sequencing； the skin microbiota levels were detected， and the distribution of bacteria， diversity of flora， and differences between groups were compared. ResultsThere were five drop-outs in each group， and 40 cases in each group were included in final analysis. After 2- and 4-week treatment， both groups showed a significant reduction in SCORAD scores， VAS scores， and CDLQI scores， and more reductions were shown after 4-week treatment than 2-week treatment （P＜0.01）. The SCORAD score， VAS score， and CDLQI score of the treatment group were significantly lower than those in the control group after 4-week treatment （P＜0.01）. The scores of upset， thirsty， poor appetite， short red urine， and dry stool were reduced in the treatment group （P＜0.05）， while the scores of thirsty， poor appetite， short and red urine decreased after treatment （P＜0.05）. After 4 weeks of treatment， among the differential genera with abundances ＞0.5% in the treatment group， The cumulative relative abundances of Staphylococcus aureus， Streptococcus_mitis， Escherichia coli and Gemella_haemolysans in the treatment group were downregulated after treatment； in the control group， there was a relative cumulative decrease in the abundance of Streptococcus_mitis. The control group had reduced relative abundance of Streptococcus_mitis， Escherichia coli， Staphylococcus aureus and Gemella_haemolysans， after treatment （P＜0.05）. Alpha diversity analysis revealed an increase in both Chaol index and Shannon index after treatment （P＜0.05）， while there was no significant difference in Chaol index and Shannon index in the control group before and after treatment （P＞0.05）. Higher Chaol index and Shannon index were found in the treatment group （P＜0.05）. Beta diversity analysis showed that there were significant differences in the microbial community structure at the lesion site between the treatment group and the control group before treatment. The microbial community structure in the treatment group was similar after treatment， while there was no significant change in the microbial community structure in the control group before and after treatment. There were significant structure differences of key bacteria genus in both groups before and after treatment. ConclusionZXP used in the treatment of pediatric atopic dermatitis （AD）with the syndrome of damp-heat accumulation， has shown efficacy in reducing the severity of skin lesions， alleviating itching， and enhancing the quality of life in children. This modulation aims to decrease the abundance of pathogenic bacteria while promoting the colonization of beneficial bacteria， thereby altering the skin microbiota and contributing to the treatment of pediatric AD.